Author Question: Disease for Infant

My good friend, Candace Calvert, drops by today with a medical question. Even though she is a former ER nurse extraordinaire-- pediatrics was not her specialty so she is doing what medical people do best-- consult an expert and I am happy to help out with the help of one of my physicians.

Candace writes inspirational romance with a medical backdrop. I happily endorsed, Rescue Team, releasing May 1st which is book #2 in the Grace Medical Series. Hope you'll check out all of her books. She is one talented lady.

Candace Asks:

I need a disease/disorder for a 6 month old baby that would require hospitalization and is hereditary.

Jordyn Says:

Okay, first I have to confess that I got the answer to this question from a physician co-worker who is an encyclopedia for crazy medical conditions. If your child is that zebra in the forest, she will figure out what it is so thanks Cathy for this answer.

A perfect condition would be a Fatty Acid Oxidative Disorder. In this case, a long chain mixed fatty acid oxidase deficiency. Now, before your eyes glaze over with that-- I could never write that-- checked out look like I may have had in high school algebra you could simply say the child had an inherited metabolic disorder.

The child would appear to be normal and all body symptoms normally functioning until something happens to cause the child to fast such as stomach flu (gastroenteritis) that would cause the child to stop eating due to vomiting.

This definition comes from the follow link:

Definition: Fatty acid oxidation disorders are inherited conditions that affect the way a person’s body breaks down certain fats (fatty acids). A person with a fatty acid oxidation disorder cannot breakdown their stored fat for energy. Consequently, the body begins to fail once food the person has eaten runs out. In addition, fatty acids build up in the blood. In the case of fatty acid oxidation disorders, the inability to break down fats for energy and the build up of fatty acids can cause serious health problems.

In a normal, functioning body, when you no longer are taking in food, your body starts to metabolize muscle and fat for energy. This is actually the basis of some diets that cut out carbs in order to get you to burn fat. It puts your body in a state of "ketosis" which isn't necessarily an awesome thing-- but I digress.

When the body is burning muscle and fat for energy, you get a build-up of ketones in the blood. We can actually see the body is burning ketones by performing a urinalysis that shows ketones.

In this case, what would actually point the physician to think about this particular metabolic disorder is the absence of ketones in a state where the patient would normally be ketotic. For instance, the blood sugar would be dangerously low (10-20-- where you could actually seize.) Normal blood sugar is 60-100. When the blood sugar is low, the body should naturally go to protein (muscle) and fat for energy because it is very self serving in wanting to stay alive. On the urinalysis, there would be absence of ketones showing the body's inability to breakdown these tissues.

Treatment would include infusing a high sugar solution (like D10).